RS104894451 PNP

Health Risk Chr 14:20476431 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Purine-nucleoside phosphorylase deficiency
Severe combined immunodeficiency disease
Purine-nucleoside phosphorylase deficiency
Severe combined immunodeficiency disease
Population Frequencies
gnomAD ALL
100%
Other Variants in PNP
rs104894453 rs104894454 rs104894450 rs104894452 rs2501836909 rs104894455 rs104894460 rs1566525400 rs563086985 rs367991537
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